Abstract
A Chinese boy with glycerol kinase deficiency is reported. His presentation with severe hypernatraemia secondary to hypodipsia and glycerol-induced osmotic diuresis is unusual and not previously described in the literature.
MeSH terms
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Child
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Chromosomes, Human, X
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Diuresis
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Genetic Linkage
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Glycerol Kinase / deficiency*
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Humans
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Hypernatremia / diagnosis*
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Male
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Metabolism, Inborn Errors / diagnosis*
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Muscles / pathology
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Muscular Diseases / pathology
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Mutation
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Osmosis
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Time Factors